ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.1353C>A (p.Ser451=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001321066 SCV001511880 uncertain significance Limb-girdle muscular dystrophy-dystroglycanopathy, type C1; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1; Walker-Warburg congenital muscular dystrophy 2020-01-03 criteria provided, single submitter clinical testing This sequence change affects codon 473 of the POMT1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the POMT1 protein. This variant is present in population databases (rs144385159, ExAC 0.003%). This variant has not been reported in the literature in individuals with POMT1-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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